S12C (p.Ser12Cys) variant of MCM2 (P49736)
S12C (p.Ser12Cys) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S12C (p.Ser12Cys) variant details
- p.Ser12Cys
- gnomAD rs1410210990
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.05
- MetaLR 0.09
- MetaSVM -0.92
- CADD 23.20
- PolyPhen-2 0.42
- SIFT 0.08
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available